JCEM case reports最新文献

Evaluation of an incidentally discovered indeterminate thyroid nodule (TN) in a previously healthy 59-year female led to diagnosis of thyroid paraganglioma (TPGL) and subsequently hereditary succinate dehydrogenase complex subunit D (SDHD)-related multifocal head and neck paragangliomas (PGLs). An ultrasound-guided fine needle aspiration (FNA) biopsy of the 1.7-cm TN was nondiagnostic and core biopsy was suspicious for papillary thyroid carcinoma. Pathology slides reviewed at tertiary center showed neuroendocrine neoplasm consistent with PGL. Her 24-hour urinary catecholamines and metanephrines were normal. Given the diagnosis of TPGL, genetic testing was recommended, which identified a pathogenic variant in SDHD (c.242C > T(p.P81L). Gallium-68-DOTATATE PET/CT revealed multifocal areas of increased somatostatin receptor expression from the skull base to thoracic inlet. Magnetic resonance imaging of the brain/neck showed multiple PGLs (right jugular, carotid, thyroid, left vagal, left level II, and superior mediastinal), all measured up to 1.7 cm. The right jugular PGL was treated with external beam radiation therapy of 3000 cGy. All PGLs remained stable and asymptomatic at 22-month follow-up imaging. TPGL should be considered in the differential diagnosis of a hypervascular TN in patients with SDHx-related pheochromocytoma-PGL syndromes and when such lesions with indeterminate cytology are encountered in patients with no known history of SDHx-mutation or syndrome.

We present a case of a PTH-related peptide (PTH-rp) producing uterine myoma, leading to hypercalcemia in pregnancy. Our patient presented with dehydration, hypotension, delirium, and malnutrition. Due to a serum calcium level of 17.9 mg/dL (4.48 mmol/L) (reference range 8.8-11.2 mg/dL; 2.20-2.80 mmol/L), prompt treatment with hydration and calcitonin was initiated. The patient went into labor before we could consider other treatment options. Although uncommon in pregnancy, it is of great importance to identify hypercalcemia since it is related to a high risk of maternal and neonatal morbidity and mortality. Because bisphosphonates are contraindicated in pregnancy, hydration and calcitonin are the cornerstones of treatment for PTH-rp-induced hypercalcemia.

Commercially available performance-enhancing supplements can contain banned performance-enhancing drugs (PEDs) and undisclosed steroid hormones that can induce hormonal abnormalities with associated clinical signs. We present a case of a 40-year-old male who developed bilateral gynecomastia and biochemical hypogonadotropic hypogonadism with a corresponding 6-month history of consuming commercially available performance-enhancing supplements for gym workouts. These performance-enhancing supplements were found to contain amounts of RAD-140, a selective androgen receptor modulator, MK-677, a GH secretagogue and cardarine, all of which are banned PEDs. In vitro analysis also detected undisclosed hormones testosterone, estradiol, and GH in all 3 supplements, with further steroid analysis using liquid chromatography mass spectrometry identifying an unidentified compound coeluting close to the testosterone peak. Cessation of these supplements led to full resolution of symptoms including normalization of hypogonadotropic hypogonadism. This case highlights the need for clinicians to consider commercially available performance-enhancing supplements as potential sources of PEDs and exogenous steroid hormones that can have adverse clinical consequences.

Hereditary hemorrhagic telangiectasia (HHT) causes arteriovenous malformations (AVMs) in several organs. This report is the first to document and image a thyroid AVM complication in HHT. A 72-year-old woman with HHT was referred for thyroid nodule evaluation. Ultrasonography showed a hypervascularized nodule in the right thyroid lobe which was initially suspected to be malignant. However, 3-dimensional computed tomography angiography demonstrated a thyroid AVM with abnormal anastomosis of the superior thyroid artery and the inferior thyroid vein. In the formation of thyroid AVM, here, chronic thyroiditis and hypothyroidism complications may have been a second hit, due to the predisposing first-hit germline mutation. This report sheds light on overlooked thyroid lesions in HHT and advocates a noninvasive imaging approach in diagnosing thyroid AVMs. Furthermore, this case suggests a potential mechanism of AVM formation in human HHT, possibly supporting the second-hit hypothesis.

Thyroid schwannoma, a rare neoplasm of the thyroid gland, originates from Schwann cells that form the myelin sheath. A 47-year-old woman presented with a progressively enlarging thyroid nodule, which was monitored by repeated ultrasonography over the previous 2 years. Following a diagnosis of thyroid schwannoma by core needle biopsy and immunohistochemical staining, the patient underwent ultrasound-guided microwave ablation (MWA). Subsequent thyroid ultrasounds indicated a gradual decrease in the tumor's volume, achieving a 12-month volume reduction ratio of 79.20%. No complications were observed. Ultrasound-guided MWA may serve as an effective alternative to conventional surgery for managing thyroid schwannomas.

Acromegaly is a chronic hormonal disorder caused by excessive GH secretion. In addition to physiological symptoms, it is often accompanied by debilitating headaches. Although effective treatment options exist, achieving complete symptom control and disease management can still be challenging. This case report chronicles the clinical journey of a 38-year-old male diagnosed with acromegaly in 2013. Despite prior interventions, including surgery and treatment with first-generation somatostatin analogues, severe frequent headaches persisted. Following a switch to pasireotide, the patient reported rapid and complete resolution of headaches and normalization of IGF-1 levels within a month of the treatment switch. This report underscores the challenges in acromegaly management and confirms the potential utility of pasireotide for patients suffering from treatment-resistant headache.

A 3-day-old male presented to a peripheral remote hospital in New South Wales, Australia, with tachypnea. He was found to have hypercalcemia, with ionized calcium >2.5 mmol/L (>10 mg/dL) (0.97-1.5 mmol/L or 1.14-1.3 mg/dL) and serum calcium of 3.85 mmol/L (15.43 mg/dL) (2.2-2.8 mmol/L or 8.5-10.5 mg/dL). Peak serum calcium was 5.4 mmol/L (21.64 mg/dL). He was transferred to a tertiary pediatric intensive care unit. Medical management (including hyperhydration, diuretics, corticosteroids, bisphosphonates, cinacalcet, and calcitonin) failed to maintain normocalcemia; therefore, total parathyroidectomy was performed on day 16 of life. Hungry bones syndrome developed postoperatively, requiring high doses of calcium, calcitriol, and phosphate supplementation. Genetic testing identified compound heterozygosity for 2 likely pathogenic variants in the calcium-sensing receptor gene. He is now 3 years old and is growing and developing without any concerns. This case highlights the importance of aggressive initial management in addressing severe hypercalcemia through perioperative management principles as well as the prolonged nature of hungry bones syndrome.

Ectopic ACTH secretion (EAS) accounts for 10% to 20% of all Cushing syndrome cases. Diffuse intrapulmonary neuroendocrine cell hyperplasia (DIPNECH), a poorly understood lung disease, is characterized by abnormal proliferation of neuroendocrine cells in the bronchial mucosa. It is thought to be a precursor of pulmonary carcinoid and has been associated with EAS in a handful of cases. We present 2 patients with clinical, radiological, and pathological features of DIPNECH who presented with florid Cushing syndrome secondary to EAS evidenced by rapid onset of symptoms, elevated plasma ACTH, and cortisol levels, and failed high-dose dexamethasone suppression testing. Treatment of hypercortisolism included excision of the involved lung and medical therapy with steroidogenesis inhibitors. Despite the aggressive initial management, hypercortisolism persisted. This case series highlights the importance of considering DIPNECH as a cause for Cushing syndrome in the appropriate clinical scenario and underscores the likelihood that surgery may not be curative because of the diffuse nature of this disease. Given the high mortality associated with EAS, prompt medical therapy, appropriate prophylaxis, and bilateral adrenalectomy can be lifesaving measures when initial surgery fails.

Somatic alpha thalassemia/mental retardation syndrome X-linked (ATRX) pathogenic variants have been shown to predict a malignant phenotype in neuroendocrine tumors. They were recently identified in aggressive pituitary tumors and carcinomas, mainly of corticotrophic origin. To our knowledge, these tumors are rare in a general cohort of pituitary tumors, with no cases described in null cell tumors. These variants can lead to loss of protein expression as revealed by immunohistochemistry. We describe a case of an aggressive null cell pituitary tumor with loss of ATRX expression. The patient underwent two transsphenoidal surgeries and radiotherapy and exhibited tumor growth despite conventional therapy. Analysis of the tumor samples revealed loss of ATRX expression in both surgical specimens, suggesting that ATRX may be a useful biomarker for the early identification of aggressive pituitary tumors.

Age is no longer the most important differentiating feature between type 1 and type 2 diabetes, as obesity and metabolic syndrome are on the rise in the pediatric population. Here we present a case of a 30-year-old male individual initially diagnosed with uncontrolled type 1 diabetes mellitus (T1DM) since the age of 15, and treatment with high insulin doses has been unsuccessful. He was later identified as having abdominal obesity-metabolic syndrome 3 (AOMS3) based on strong family history and the presence of insulin resistance features. AOMS3 is characterized by early-onset coronary artery disease, central obesity, hypertension, and diabetes. Early detection of this condition is crucial to implement timely interventions and preventing the onset of complications.